ClinVar for Gene (Select 84306) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305308	NM_032346.2(PDCD2L):c.241G>A (p.Ala81Thr)	PDCD2L (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210576	NM_032346.2(PDCD2L):c.905T>G (p.Leu302Arg)	PDCD2L (L300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210575	NM_032346.2(PDCD2L):c.736G>A (p.Gly246Arg)	PDCD2L (G244R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210574	NM_032346.2(PDCD2L):c.515T>A (p.Leu172Gln)	PDCD2L (L170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210573	NM_032346.2(PDCD2L):c.47C>G (p.Pro16Arg)	PDCD2L (P16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210572	NM_032346.2(PDCD2L):c.1054C>A (p.Pro352Thr)	PDCD2L (P350T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2543032	NM_032346.2(PDCD2L):c.348C>G (p.Asn116Lys)	PDCD2L (N114K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527061	NM_032346.2(PDCD2L):c.1045C>A (p.Gln349Lys)	PDCD2L (Q347K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519980	NM_032346.2(PDCD2L):c.209C>T (p.Pro70Leu)	PDCD2L (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481502	NM_032346.2(PDCD2L):c.22G>A (p.Val8Met)	PDCD2L (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463725	NM_032346.2(PDCD2L):c.245G>T (p.Cys82Phe)	PDCD2L (C82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2398758	NM_032346.2(PDCD2L):c.133C>T (p.Pro45Ser)	PDCD2L (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355146	NM_032346.2(PDCD2L):c.229G>T (p.Val77Leu)	PDCD2L (V77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352088	NM_032346.2(PDCD2L):c.987T>G (p.Cys329Trp)	PDCD2L (C327W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332075	NM_032346.2(PDCD2L):c.112G>T (p.Ala38Ser)	PDCD2L (A38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314122	NM_032346.2(PDCD2L):c.884A>G (p.Gln295Arg)	PDCD2L (Q295R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298432	NM_032346.2(PDCD2L):c.500T>A (p.Leu167Gln)	PDCD2L (L165Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293259	NM_032346.2(PDCD2L):c.734G>A (p.Ser245Asn)	PDCD2L (S243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282584	NM_032346.2(PDCD2L):c.10G>T (p.Val4Phe)	PDCD2L (V4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252961	NM_032346.2(PDCD2L):c.809G>A (p.Ser270Asn)	PDCD2L (S268N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252270	NM_032346.2(PDCD2L):c.83C>A (p.Thr28Asn)	PDCD2L (T28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242614	NM_032346.2(PDCD2L):c.476C>T (p.Thr159Ile)	PDCD2L (T159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231376	NM_032346.2(PDCD2L):c.206C>T (p.Ser69Phe)	PDCD2L (S69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224335	NM_032346.2(PDCD2L):c.74G>T (p.Gly25Val)	PDCD2L (G25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212652	NM_032346.2(PDCD2L):c.1018A>C (p.Thr340Pro)	PDCD2L (T340P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210903	NM_032346.2(PDCD2L):c.472T>A (p.Trp158Arg)	PDCD2L (W156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40